Table 2 Analysis of 14 mutations linked to various forms of hemophilia in the Factor IX gene.
From: Large-scale computational identification of regulatory SNPs with rSNP-MAPPER
SNP | Score (bef / aft / change) | Model | Factor |
|---|---|---|---|
A-26G | - / 4.9 / 4.9 | T00040 | AR |
C-26G | - / 4.9 / 4.9 | T00040 | AR |
C-23T | - / 4.9 / 4.9 | T00040 | AR |
G-21T | - / 4.9 / 4.9 | T00040 | AR |
C-20T | - / 2.4 / 2.4 | MA0044 | HMG-1 |
A-20T | - / 2.4 / 2.4 | MA0044 | HMG-1 |
G-19C | - / 1.7 / 1.7 | MA0007 | AR |
T6A | - / 4.7 / 4.7 | MA0102 | cEBP |
T7C | - / 4.7 / 4.7 | MA0102 | cEBP |
T8C | - / 4.7 / 4.7 | MA0102 | cEBP |
C9G | - / 4.7 / 4.7 | MA0102 | cEBP |
A12C | - / 4.7 / 4.7 | MA0102 | cEBP |
A12G | - / 4.7 / 4.7 | MA0102 | cEBP |
A14G | - / 4.7 / 4.7 | MA0102 | CEBP |